A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557586



Internal ID22426392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235309632..235309632hg38UCSC Ensembl
chr1:235472947..235472947hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14440104, nssv14414443
SamplesHG00733, HG00514
Known GenesARID4B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3557586
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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